Variant report

Variant	rs2230529
Chromosome Location	chr21:46313442-46313443
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:46312704-46313676	GM12878	blood:	n/a	n/a
2	CTCF	chr21:46312600-46313561	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr21:46313340-46313490	GM12871	blood:	n/a	n/a
4	POLR2A	chr21:46312746-46313894	HL-60	blood:	n/a	n/a
5	CTCF	chr21:46313440-46313590	HFF-Myc	foreskin:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46308444..46311023-chr21:46311109..46314097,2	K562	blood:
2	chr21:46308445..46311760-chr21:46312994..46317779,5	MCF-7	breast:
3	chr21:46310744..46314052-chr21:46353302..46357037,3	K562	blood:
4	chr21:46220374..46222087-chr21:46311415..46314337,2	MCF-7	breast:
5	chr21:46221113..46222920-chr21:46311601..46314491,2	K562	blood:

No data

Variant related genes	Relation type
ITGB2	TF binding region
ENSG00000160255	Chromatin interaction
ENSG00000272825	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000236519	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1970054	0.98[ASN][1000 genomes]
rs2838725	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838726	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838727	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34675004	0.98[ASN][1000 genomes]
rs3788142	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55965820	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7281466	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9979014	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv913962	chr21:46223847-46321172	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv913965	chr21:46223847-46321172	Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1058550	chr21:46227163-46317934	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1060233	chr21:46254075-46323401	Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv544479	chr21:46280467-46323401	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv470908	chr21:46298869-46335580	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv933240	chr21:46305956-46371518	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
14	nsv913971	chr21:46306161-46322487	Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv459301	chr21:46306161-46322853	Bivalent Enhancer Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
16	nsv587815	chr21:46306161-46322853	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
17	nsv913972	chr21:46306161-46322853	Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
18	nsv516593	chr21:46306161-46323731	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
19	nsv913973	chr21:46306161-46323731	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
20	nsv913974	chr21:46306161-46430792	Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
21	nsv913975	chr21:46306161-46459432	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
22	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
23	nsv587816	chr21:46307495-46322853	Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
24	nsv817935	chr21:46311264-46323731	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
25	nsv459302	chr21:46311264-46327835	Genic enhancers Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
26	nsv587817	chr21:46311264-46327835	Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46295600-46338800	Weak transcription	Right Atrium	heart
2	chr21:46298400-46326600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:46305400-46315000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr21:46305400-46315800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr21:46305400-46316600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr21:46305400-46322400	Strong transcription	Dnd41	blood
7	chr21:46305400-46325000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr21:46305800-46318800	Weak transcription	Gastric	stomach
9	chr21:46306000-46318400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr21:46306400-46317200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr21:46307000-46317600	Weak transcription	GM12878-XiMat	blood
12	chr21:46308800-46316800	Weak transcription	Right Ventricle	heart
13	chr21:46310400-46316800	Genic enhancers	Primary T cells fromperipheralblood	blood
14	chr21:46311200-46313800	Enhancers	HepG2	liver
15	chr21:46311200-46316000	Weak transcription	Esophagus	oesophagus
16	chr21:46311200-46317600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr21:46311600-46313800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr21:46311600-46316400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr21:46311800-46313800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr21:46311800-46316400	Weak transcription	Lung	lung
21	chr21:46312000-46315200	Strong transcription	Spleen	Spleen
22	chr21:46312200-46313600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr21:46312200-46313600	Enhancers	Primary B cells from peripheral blood	blood
24	chr21:46312600-46313600	Genic enhancers	Primary B cells from cord blood	blood
25	chr21:46312600-46313600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
26	chr21:46312600-46313600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr21:46312600-46314200	Weak transcription	Thymus	Thymus
28	chr21:46312800-46313800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr21:46312800-46313800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr21:46312800-46313800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr21:46312800-46313800	ZNF genes & repeats	Fetal Thymus	thymus
32	chr21:46312800-46314800	Genic enhancers	Monocytes-CD14+_RO01746	blood
33	chr21:46312800-46315000	Enhancers	Liver	Liver
34	chr21:46313000-46313600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr21:46313000-46313800	Weak transcription	Hela-S3	cervix
36	chr21:46313000-46314400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
37	chr21:46313000-46315200	Strong transcription	Primary T cells from cord blood	blood
38	chr21:46313200-46313600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr21:46313200-46314200	Enhancers	Placenta	Placenta
40	chr21:46313400-46314400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr21:46313400-46317200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr21:46313400-46317600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr21:46313400-46317800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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